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Journal Abstract Search

307 related items for PubMed ID: 18000906

  • 1. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
    Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3010-5. PubMed ID: 18000906
    [Abstract] [Full Text] [Related]

  • 2. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
    Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.
    Hum Genet; 2014 Mar 15; 133(3):321-30. PubMed ID: 24154661
    [Abstract] [Full Text] [Related]

  • 3. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
    Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER.
    J Med Genet; 1994 Oct 15; 31(10):749-53. PubMed ID: 7837249
    [Abstract] [Full Text] [Related]

  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Shuman C, Kalish JM, Weksberg R.
    ; 1993 Oct 15. PubMed ID: 20301568
    [Abstract] [Full Text] [Related]

  • 5. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.
    Pediatr Int; 2014 Dec 15; 56(6):931-934. PubMed ID: 25521982
    [Abstract] [Full Text] [Related]

  • 6. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.
    Eur J Hum Genet; 2016 Feb 15; 24(2):183-90. PubMed ID: 25898929
    [Abstract] [Full Text] [Related]

  • 7. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
    Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.
    J Med Genet; 1997 May 15; 34(5):353-9. PubMed ID: 9152830
    [Abstract] [Full Text] [Related]

  • 8. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
    Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.
    J Am Soc Nephrol; 2002 Aug 15; 13(8):2077-84. PubMed ID: 12138139
    [Abstract] [Full Text] [Related]

  • 9. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
    Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.
    Eur J Hum Genet; 2011 Apr 15; 19(4):416-21. PubMed ID: 21248736
    [Abstract] [Full Text] [Related]

  • 10. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.
    Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H.
    Endocr J; 2013 Apr 15; 60(4):403-8. PubMed ID: 23197114
    [Abstract] [Full Text] [Related]

  • 11. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
    Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R.
    Am J Med Genet A; 2015 Oct 15; 167A(10):2463-9. PubMed ID: 26219535
    [Abstract] [Full Text] [Related]

  • 12. Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy.
    Fukuzawa R, Hata J, Hayashi Y, Ikeda H, Reeve AE.
    Pediatr Dev Pathol; 2003 Oct 15; 6(4):299-306. PubMed ID: 14692643
    [Abstract] [Full Text] [Related]

  • 13. Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
    Macchiaiolo M, Markowich AH, Diociaiuti A, Gonfiantini MV, Buonuomo PS, Rana I, Monti L, El Hachem M, Bartuli A.
    Am J Med Genet A; 2020 Aug 15; 182(8):1972-1976. PubMed ID: 32573107
    [Abstract] [Full Text] [Related]

  • 14. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
    Cooper WN, Curley R, Macdonald F, Maher ER.
    Genomics; 2007 May 15; 89(5):613-7. PubMed ID: 17337339
    [Abstract] [Full Text] [Related]

  • 15. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
    Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R.
    Am J Med Genet A; 2013 Jan 15; 161A(1):13-20. PubMed ID: 23239666
    [Abstract] [Full Text] [Related]

  • 16. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
    Choufani S, Ko JM, Lou Y, Shuman C, Fishman L, Weksberg R.
    Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513760
    [Abstract] [Full Text] [Related]

  • 17. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
    Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
    Eur J Hum Genet; 2001 Jun 27; 9(6):409-18. PubMed ID: 11436121
    [Abstract] [Full Text] [Related]

  • 18. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
    Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.
    Clin Epigenetics; 2016 Jun 27; 8():23. PubMed ID: 26933465
    [Abstract] [Full Text] [Related]

  • 19. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
    DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP.
    Am J Hum Genet; 2002 Mar 27; 70(3):604-11. PubMed ID: 11813134
    [Abstract] [Full Text] [Related]

  • 20. Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M.
    Epigenetics; 2013 Oct 27; 8(10):1053-60. PubMed ID: 23917791
    [Abstract] [Full Text] [Related]

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